Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity.
作者： Norris R. Glick , Philip J. Snodgrass , Irwin A. Schafer
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摘要: An infant is described who died at 6 days of age with hyperammonemia and argininosuccinic acid in the urine. Argininosuccinic lyase (AL) was absent liver, decreased red blood cells, but normal brain kidney. The instability AL frozen stored tissues accounts for previous reports deficient activity kidney neonates this disease. variation patient demonstrates that more than one gene locus either codes structure enzyme or regulates its biosynthesis different organs.
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